| 疾病名称 |
别名 |
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| Gracile Syndrome |
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Finnish Lethal Neonatal Metabolic Syndrome
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Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
|
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Flnms
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Fellman Syndrome
|
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Fellman Disease
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Finnish Lactic Acidosis With Hepatic Hemosiderosis
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Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
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Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
|
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Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
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Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
|
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GRACILE
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| Mitochondrial Dna Depletion Syndrome |
|
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| Mitochondrial Dna Depletion Syndrome 6 |
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Navajo Neurohepatopathy
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Navajo Neuropathy
|
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MTDPS6
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Nnh
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Nn
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Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
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Navajo Familial Neurogenic Arthropathy
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Mpv17-Associated Hepatocerebral Mds
|
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Mitochondrial Dna Depletion 6 Hepatocerebral Type
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Mitochondrial Dna Depletion Syndrome , Type 6
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|
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| 3-Methylglutaconic Aciduria, Type Iii |
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Optic Atrophy
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3-Methylglutaconic Aciduria Type 3
|
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Costeff Syndrome
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Mga3
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Costeff Optic Atrophy Syndrome
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Optic Atrophy Plus Syndrome
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Infantile Optic Atrophy With Chorea And Spastic Paraplegia
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3-Methylglutaconic Aciduria Type Iii
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Autosomal Recessive Optic Atrophy Plus Syndrome
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Autosomal Recessive Optic Atrophy Type 3
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Opa3 Defect
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MGCA3
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
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Mga Type Iii
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Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
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Iraqi-Jewish 'Optic Atrophy Plus'
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Optic Atrophy 3, Autosomal Recessive
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Opa3, Autosomal Recessive
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Opa3-Related 3-Methylglutaconic Aciduria
|
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Iraqi-Jewish Optic Atrophy Plus
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Atrophy Of Optic Disc
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3-Alpha Methylglutaconic Aciduria Type Iii
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Optic Atrophy 3
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Optic Atrophy Infantile With Chorea And Spastic Paraplegia
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Autosomal Recessive Opa3
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Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
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3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
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Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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|
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| Xeroderma Pigmentosum, Complementation Group B |
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Xeroderma Pigmentosum Group B
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Xeroderma Pigmentosum, Group B
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XPB
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Xpbc
|
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Xp Group B
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Xp, Group B
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Xeroderma Pigmentosum Complementation Group B
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XP-B
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Xeroderma Pigmentosum Group B With Cockayne Syndrome
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Xeroderma Pigmentosum Ii
|
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Xp2
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Xp-B/Cs
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| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Peripheral Neuropathy And Optic Atrophy
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Cmt6
|
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Charcot-Marie-Tooth Disease Type 6
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Hmsn Vi
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HMSN6A
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Hmsn Via
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Hmsn6
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Cmt6a
|
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Charcot-Marie-Tooth Disease, Type 6
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Hereditary Motor And Sensory Neuropathy Type 6
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Hereditary Motor And Sensory Neuropathy Type Vi
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Neuropathy, Hereditary Motor And Sensory, Type 6a
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Neuropathy, Hereditary Motor And Sensory, Type Vi
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Charcot-Marie-Tooth Disease, Type 6a
|
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Hereditary Motor And Sensory Neuropathy Via
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Hmsn 6
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Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy
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Charcot-Marie-Tooth Disease 6
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Charcot-Marie-Tooth Disease 6a
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Hereditary Motor And Sensory Neuropathy Type Via
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Hereditary Motor And Sensory Neuropathy Vi
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|
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| Parkinson Disease 4, Autosomal Dominant |
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Autosomal Dominant Parkinson Disease 4
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PARK4
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Parkinson Disease 4, Autosomal Dominant Lewy Body
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Parkinson Disease 4
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Parkinson'S Disease 4
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Autosomal Dominant Lewy Body Parkinson Disease 4
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Autosomal Dominant Parkinson'S Disease 4
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Parkinson Disease 4 Autosomal Dominant Lewy Body
|
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Parkinson Disease Autosomal Dominant 4
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Parkinson Disease Familial Type 4
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Parkinson Disease, Type 4
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| Combined Oxidative Phosphorylation Deficiency 37 |
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| Leigh Syndrome |
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Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
|
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
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Sne
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Leigh'S Disease
|
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Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
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Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
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Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
|
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
|
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
|
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
|
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
|
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Subacute Necrotising Encephalopathy
|
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| Wolf-Hirschhorn Syndrome |
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Pitt-Rogers-Danks Syndrome
|
WHS
|
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Chromosome 4p16.3 Deletion Syndrome
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Wittwer Syndrome
|
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4p- Syndrome
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Pitt Syndrome
|
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4p Deletion Syndrome
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Distal Deletion 4p
|
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Distal Monosomy 4p
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Telomeric Deletion 4p
|
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Prds
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4p Syndrome
|
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Chromosome 4p Syndrome
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Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
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Wolf Syndrome
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Chromosome 4p Deletion Syndrome
|
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Chromosome 4p Monosomy
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Del Syndrome
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Monosomy 4p
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Partial Monosomy 4p
|
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Chromosome 4 Short Arm Deletion
|
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| Frontotemporal Dementia |
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Pallidopontonigral Degeneration
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Frontotemporal Lobar Degeneration
|
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Semantic Dementia
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FTD
|
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Frontotemporal Lobe Dementia
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Multiple System Tauopathy With Presenile Dementia
|
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Dementia, Frontotemporal
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Frontotemporal Dementia With Parkinsonism
|
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Mstd
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Frontotemporal Lobar Degeneration With Tau Inclusions
|
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Ftld With Tau Inclusions
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Dementia, Frontotemporal, With Parkinsonism
|
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Fldem
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Ftdp17
|
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Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
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Ddpac
|
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Wilhelmsen-Lynch Disease
|
Wld
|
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Ppnd
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Dementia, Frontotemporal, With Or Without Parkinsonism
|
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Semantic Primary Progressive Aphasia
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Semantic Variant Ppa
|
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Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
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Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
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Ftld
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Pick Complex
|
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Pick Disease Of The Brain
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Frontotemporal Dementia With Parkinsonism-17
|
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Grn-Related Frontotemporal Dementia
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Frontotemporal Dementia With Motor Neuron Disease
|
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Dementia In Fronto-Temporal Lobar Degeneration
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Ftd - [Frontotemporal Dementia]
|
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Temple Dementia
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Frontal Lobe Dementia
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
PEOA4
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
|
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
|
Chronic Progressive External Ophthalmoplegia
|
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Progressive External Ophthalmoplegia, Autosomal Dominant 4
|
Autosomal Dominant Progressive External Ophthalmoplegia 4
|
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Cpeo
|
Graefe Disease
|
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Mitochondrial Ocular Myopathy
|
Ocular Myopathy Of Von Graefe-Fuchs
|
|
Progressive External Ophthalmoplegia Autosomal Dominant 4
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
|
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Kearns-Sayre Syndrome
|
|
|
| Barth Syndrome |
|
3-Methylglutaconic Aciduria Type 2
|
BTHS
|
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Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
|
Mga Type Ii
|
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Mga2
|
Mgca2
|
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Mga Type 2
|
3-Methylglutaconic Aciduria Type Ii
|
|
3-Methylglutaconic Aciduria, Type Ii
|
Mga, Type Ii
|
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3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
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Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
|
Dnajc19 Defect
|
Cardioskeletal Myopathy-Neutropenia Syndrome
|
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X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
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Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
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Invm
|
Left Ventricular Non-Compaction Isolated X-Linked
|
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Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
|
Agammaglobulinemia 2, Autosomal Recessive
|
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Cytochrome C Oxidase Deficiency
|
Mitochondrial Complex Iv Deficiency
|
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Cox Deficiency
|
Cytochrome-C Oxidase Deficiency Disease
|
|
MC1DN4
|
Cytochrome-C Oxidase Deficiency
|
|
MC4DN1
|
Mitochondrial Complex I Deficiency, Nuclear Type 4
|
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Complex 4 Mitochondrial Respiratory Chain Deficiency
|
Complex Iv Deficiency
|
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Mitochondrial Complex 1 Deficiency, Nuclear Type 4
|
Nuclear Type Mitochondrial Complex I Deficiency 4
|
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Deficiency Of Mitochondrial Respiratory Chain Complex4
|
MT-C4D
|
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Complex Iv Mitochondrial Respiratory Chain Deficiency
|
Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
|
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Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
|
|
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
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Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
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CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
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Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
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Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
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Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
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Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
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Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
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Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
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Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
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Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
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| Microcephaly |
|
Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
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Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
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| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
|
LOAM
|
Loas
|
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
|
Leber Hereditary Optic Atrophy
|
Loa
|
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
